A heterozygous missense variant in the YWHAG gene causing developmental and epileptic encephalopathy 56 in a Chinese family
Abstract Background Developmental and epileptic encephalopathies (DEEs) are a heterogeneous group of severe disorders that are characterized by early-onset, refractory seizures and developmental slowing or regression. Genetic variations are significant causes of these changes. De novo variants in an...
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Main Authors: | , , , , , , , , |
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Format: | Book |
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BMC,
2022-10-01T00:00:00Z.
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A1234.567 |
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